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62599000: 9p partial monosomy syndrome (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
partiel monosomi 9p-syndrom	Is a	Monosomy and deletion from autosome	false	Inferred relationship	Some
partiel monosomi 9p-syndrom	Is a	Anomaly of chromosome pair 9 (disorder)	false	Inferred relationship	Some
partiel monosomi 9p-syndrom	Associated morphology	Deletion of short arm	false	Inferred relationship	Some	2
partiel monosomi 9p-syndrom	Finding site	Sex chromosome	false	Inferred relationship	Some
partiel monosomi 9p-syndrom	Occurrence	Congenital	false	Inferred relationship	Some
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	2
partiel monosomi 9p-syndrom	Associated morphology	Monosomy	false	Inferred relationship	Some	1
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	1
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	1
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	1
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	3
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	1
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	2
partiel monosomi 9p-syndrom	Associated morphology	kongenit anomali	false	Inferred relationship	Some	3
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	3
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	2
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	1
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	3
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	1
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	2
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	1
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	3
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	2
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	2
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	3
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	1
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	3
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	2
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	1
partiel monosomi 9p-syndrom	Associated morphology	Deletion of short arm	false	Inferred relationship	Some
partiel monosomi 9p-syndrom	Associated morphology	Monosomy	false	Inferred relationship	Some
partiel monosomi 9p-syndrom	Associated morphology	kongenit anomali	false	Inferred relationship	Some
partiel monosomi 9p-syndrom	Occurrence	Congenital	false	Inferred relationship	Some	1
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	1
partiel monosomi 9p-syndrom	Is a	Deletion of part of autosome	false	Inferred relationship	Some
partiel monosomi 9p-syndrom	Associated morphology	Deletion of short arm	false	Inferred relationship	Some	1
partiel monosomi 9p-syndrom	Occurrence	Congenital	false	Inferred relationship	Some	2
partiel monosomi 9p-syndrom	Associated morphology	Partial monosomy (morphologic abnormality)	false	Inferred relationship	Some	2
partiel monosomi 9p-syndrom	Finding site	Chromosome pair 9	false	Inferred relationship	Some	2
partiel monosomi 9p-syndrom	Is a	Deletion of part of chromosome 9 (disorder)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
9q22.3 deletion syndrome	Is a	False	partiel monosomi 9p-syndrom	Inferred relationship	Some
Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.	Is a	False	partiel monosomi 9p-syndrom	Inferred relationship	Some
9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicanthic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).	Is a	False	partiel monosomi 9p-syndrom	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
104045014	9p partial monosomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
104046010	9p minus syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
104047018	9p monosomy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
801788018	9p partial monosomy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1999371000005116	partiel monosomi 9p-syndrom	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)